title: Progressive development of sonographic features in prenatal diagnosis of Apert syndrome--case report and literature review.
abstract: Apert syndrome is characterized by craniosynostosis, midfacial malformations and symmetrical syndactyly of the hands and feet. We report a case of prenatal sonographic diagnosis of Apert syndrome. Mild ventriculomegaly with normal head shape observed at 22 weeks gestation, followed by colpocephaly at 25 weeks gestation and bilateral syndactyly and subsequent craniosynostosis at 28 weeks, led to the prenatal diagnosis of Apert syndrome. The diagnosis was confirmed by physical examination and molecular study after birth. Additionally the authors present the review of literature on prenatal sonographic diagnosis of Apert syndrome.
authors.affiliation: Department for Fetal Congenital Malformations Diagnoses and Prevention, Medical University of Lodz, Poland. majkares@uni.lodz.pl
authors.forename: Maria
authors.initials: M
authors.lastname: Respondek-Liberska
authors.forename: Robert
authors.initials: R
authors.lastname: Smigiel
authors.forename: Andrzej
authors.initials: A
authors.lastname: Zielinski
authors.forename: Maria Malgorzata
authors.initials: MM
authors.lastname: Sasiadek
mesh_terms: D000168:Acrocephalosyndactylia / Q000000981:diagnostic imaging*; D000328:Adult; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging; D003398:Craniosynostoses / Q000000981:diagnostic imaging; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D006801:Humans; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D016216:Ultrasonography, Prenatal